RNAi lost and found in translation: a breakthrough therapeutic area
Nature Biotechonology has recently reported on the progress industry is making in understanding the benefits of RNAi as a treatment modality, news that is especially promising for rare diseases patients. RNAi is a part of the “gene silencing” technology where the introduction of small strands of RNA (20-24 base pairs) binds to its complementary RNA in vivo, forming a double stranded RNA stopping the protein formation of that RNA.
While this methodology has been successfully tried and tested in fundamental research, its foray into clinical research has been markedly sketchy. The authors describe how start-ups were developing therapeutic platforms using this technology and big pharma followed suit, which unfortunately, did not bear fruit. However, the initial setbacks were tempered by recent success of Alnylam in using RNAi –with effective delivery vehicle to the liver – in not only knocking down target genes but also causing a therapeutic effect in humans, has been good news for patients suffering from rare liver diseases. The authors present how Alnylam is now courted by Genzyme boosting its ability to bring this therapy to the market a possible dream. The article also describes the case of fellow RNAi specialist Dicerna, who has also netted $USD 92.9 million in an IPO encouraged by the success of Alnylam.
According to the authors, these ventures into newer and advanced methodologies to treat diseases, by looking beyond conventional drugs is the sign of times to come as “companies pursue gene therapy, gene editing and protein misfolding correction, to name a few, are reminding investors of what it was like in the genomics era, to dare to imagine transformative advances”.
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In an exceedingly collaborative move that will profit rare disease patients in the European Union and Australia, the European Medicines Agency (EMA) and the Australian Therapeutic Goods Administration (TGA) will organise the sharing of the workload for marketing-authorisation applications of orphan drugs, as well as the possibility of scientific exchange to facilitate the evaluation of such medicines. They will be sharing full assessment reports related to marketing authorisations of orphan drug which promises to be economical in terms of time and resource. This move endorses parallel submissions by sponsors to EMA and TGA, even though both regulators will independently decide over the suitability of each medicine to be authorised in their respective markets. 
Pharmaceutical Management Agency (Pharmac) is seeking public feedback on a new funding approach specifically geared for high-cost medicines for rare disorders. The use of a contestable fund, worth an estimated $NZD 5 million a year, will be tested this year. According to the discussion document on the new funding model, the $5 million contestable fund will be sourced from savings made through the Named Patient Pharmaceutical Assessment pathway. Because the contestable fund is already capped, it won't limit Pharmac's ability to fund other treatments for less rare conditions. Once the details are ironed out, Pharmac anticipates receiving proposals from pharmaceutical companies by the end of 2014 and funding could begin early next year. However, New Zealand Organisation of Rare Diseases (NZORD) notes that $NZD 5 million budget is not enough, considering that an estimated between $NZD 20 and 25 million may be needed to give all patients with rare diseases the drugs they need. NZORD also finds the timing of the announcement prior to this year's election is also "a cause for suspicion". 
The Patient-Centered Outcomes Research Institute (PCORI), authorised by the US Congress to conduct research to provide information about the best available evidence to help patients and their health care providers make more informed decisions has approved 13 people as members of PCORI’s new Advisory Panel on Rare Disease. The diverse group of panelists will apply their experience and expertise to advising PCORI on its research priorities in the area of rare disease, as well as on engaging with the rare disease research community. The new panelists represent a range of stakeholder groups and perspectives, including people with rare diseases, family caregivers, clinicians, drug and device makers, and researchers, among others with more than a third representing patients and patient advocates. The panel will assist PCORI in identifying experts to serve on ad hoc advisory panels as needed to consider research issues related to particular rare diseases to advice the US Congress. 
An article published in Orphanet Journal of Rare Diseases presents the results of a study conducted at population level using the Veneto Regions rare disease registry to collect epidemiological data on rare diseases from the years 2002-2012. This has been the first known study on the prevalence of rare diseases at the population level. The authors describe the shortcomings of population registries focusing on single rare diseases as they do not provide a broad picture of rare diseases. The authors depict this database as a multi source web-based information system that combines aspects of population-based as well as clinically oriented registry which was introduced in the Veneto region in 2002 and subsequently adopted in 6 other Italian regions. From studying the data already collected, the authors were able to provide the first indication of the magnitude of the public health problem associated with rare diseases. 
